LIVE Webinar Series

The Fall 2017 Webinar Schedule is NOW AVAILABLE!

Cure HHT has always believed that knowledge is one of the most powerful tools for the HHT community. It is the key, not only to understanding the effects of HHT, but also to spreading awareness and advocating effectively for yourself and your family.

The Cure HHT webinar series was established to inform patients and physicians of the latest information in HHT treatment, medicine and research, but also to build and strengthen the HHT community. The live webinars feature physicians and scientists specializing in HHT, with each webinar including a Q&A period.

Click on the links below to REGISTER for each of the webinars offered by Cure HHT this fall.

Don't forget to invite your primary care physicians and family members to attend as well!  A better understanding of HHT will directly improve the quality of life for your family.

 


 

It is through the generosity of donors in our community that we can continue to provide this valuable education for you and your family. Please consider showing your support by making a donation (please mention “webinar” in the comment section). We are grateful for any contribution.

 

 

Two Crazy Guys Swim for HHT

Cure HHT is grateful for Anthony Anzell and his friend, Jordan, for their heroic efforts to raise awareness and funds for HHT.  Ten years ago, Anthony underwent 3 brain surgeries, a liver surgery and a lung surgery due to abscesses caused by his undiagnosed HHT. Anthony's passion is to raise awareness for this disease so that no one else has to endure what he went through. His journey from the hospital to swimming 19 miles is inspirational.   READ Anthony's story.

HHT Story from FOX2 Detroit

 - Doctors told Anthony Anzell he had a debilitating genetic disease at a young age, but Anthony has never let that diagnosis define him.

Now, he's going above and beyond to raise awareness about HHT, Hereditary Hemmorhagic Telangiectasia. It's estimated that 90% of people who have HHT go undiagnosed because of the lack of awareness, and that HHT affects more people than cystic fibrosis and muscular dystrophy.

Jordan and Anthony on Torch Lake

HHT is a rare autosomal dominant genetic disorder that leads to abnormal blood vessels. Anthony went through three brain surgeries, a liver surgery, and a lung surgery before he found out about his HHT diagnosis.

Now, he does crazy stunts to raise awareness so that no one has to suffer like he says he did before finding out if they are affected by HHT.

Earlier this month, Anthony swam the length of Torch Lake, which is about 19 miles. He joined us in studio to tell us more about his swim and the other ways he's raising awareness. He once also ran 50 miles through Hell, Mich.

It took Anthony 15 hours to swim Torch Lake. You can hear from him in the video player above.

Anthony says he's not sure yet what his next crazy stunt will be.

If you want to learn more about HHT, visit www.curehht.org.

You can show Anthony your support and make a donation to his Cure HHT campaign.

 

Advance HHT Research and Earn $50

Cure HHT is collaborating with Sanguine, a provider of at-home clinical research services, to give you the opportunity to donate blood from home for an HHT research project.  You can help advance research for HHT with a simple one-time blood donation and receive $50 for your time.

You may qualify to participate if you:

  • Are 18 years of age or older
  • Have been diagnosed with HHT
  • Have a confirmed medical history of HHT (ESS score of 2-6)
  • Live within 100 miles of Boston, MA or be willing to travel within 100 miles of Boston

To sign up, click the link below or call Dalia Sherif at (818) 804-2471. 

 


 

What is preclinical research?

In preclinical research, researchers test their theories on human samples like blood rather than human participants. This phase helps researchers determine the safest and most effective way to move forward with their project and often helps define the parameters of future clinical trials.

 

How will my blood donation help?

Researchers will always rely on samples from the patient population that they are researching in order to perform their preclinical research. Your blood is special. It is the key to new therapies and diagnostics. Without it, researchers cannot move forward with their clinical tests and research projects are stalled or put on hold.

Sign Up Now ›

 

Why Sanguine?

Sanguine is a leading provider of at-home clinical research services empowering patients to participate in research studies from the comfort of their homes using smart technology and a mobile health staff. For more information, visit .

Press Release: Launch of Multi-State Pilot Program

 

 

Cure HHT to Present Congressman David E. Price with its

"Champion Award" at launch of Multi-State Pilot Program

Headquartered at UNC Chapel Hill

 

Cure HHT has been partnering with the Center for Disease Control and Prevention (CDC) for over a decade.  Through this relationship and ongoing meetings, the HTC / HHT concept was born.  Cure HHT's advocacy efforts, along with the support of Congressman David Price, resulted in federal funding for a two year, multi-state pilot program involving three Hemophilia Treatment Centers (HTC) in underserved areas of the country. 

 

Chapel Hill, NC - On Thursday, August 24 at 5:00pm at the Carolina Club at UNC, Chapel Hill, Cure HHT, the national advocacy organization for people with the rare hereditary disease HHT, will present its' “Champion Award” to Congressman David E. Price (D-NC, 4th District) for his leadership in securing funding of a new HHT multi-state pilot initiative.  Prior to the event, the Congressman along with Cure HHT Executive Director Marianne Clancy and UNC Chapel Hill HHT Center Director Dr. Raj Kasthuri will tour the UNC HHT Clinic and meet some of the patients.

Cure HHT recently celebrated 25 years of building awareness of HHT, educating the public and medical professionals, leveraging funding for research, and advocating for patients and families affected by the disease.  In order to provide expert, multidisciplinary care for people with HHT, Cure HHT has helped establish 25 Centers of Excellence in North America over the last 2 decades.

While Cure HHT will continue to build the number of its Centers of Excellence, working with Dr. Kasthuri it proposed a pilot program where three Hemophilia Treatment Centers would receive guidance and training to allow them to serve HHT patients as well. If successful, this could potentially expand access to care significantly for HHT patients, especially in areas where no HHT Center of Excellence exists.

All that was needed was the funding to make the pilot program a reality.  Enter Congressman David Price who made securing federal funding for the pilot program one of his three top legislative priorities.   “I was inspired by the leadership of the team at UNC and Cure HHT in their efforts to leverage existing infrastructure to bring comprehensive care to an underserved community of patients,” said Rep. Price. “I’m optimistic that a successful pilot program will serve as a model for communities across the country to bring awareness and treatment to those affected by this disease.”

In many ways the treatment and management of HHT can be compared to treatment for hemophilia, the hereditary condition where the blood fails to coagulate.  Due to the efforts of The National Hemophilia Foundation, created in 1948, there are currently more than 130 federally funded Hemophilia Treatment Centers in the U.S.  Many of these have teams of doctors and specialists such as hematologists, genetics counselors and nurse coordinators.

“Unfortunately our current Centers of Excellence can’t reach everyone affected by the disease,” comments Cure HHT’s Executive Director Marianne Clancy. “There is so much more work to be done on this disease.  Due to lack of awareness by both the public and medical providers, it can take as long as 30 years for someone to be properly diagnosed.  Only ten percent of the people who have HHT are aware of it.”

 

Cure HHT is excited to begin this new endeavor. By partnering with the CDC, Congressman Price, three Hemophilia Treatment Centers and UNC Chapel Hill HHT Center, the possibility of providing knowledgeable care to HHT patients in all fifty states becomes attainable. Thank you to all constituents who have supported Cure HHT's efforts over the last twenty years. Without you, this project and future projects would not be possible.

 

Cure HHT Blog

The Cure HHT blog is now linked through the Cure HHT website! Simply click on the "Blog" button at the top of the website homepage to see all of the stories posted since the blog's inception in 2016.

The Cure HHT blog is just another awareness avenue for patients, doctors, supporters and organization members to share stories, videos and pictures with the world and each other. And, of course, for Cure HHT to keep you updated on what's happening in the world of HHT and how those things relate to you.

We would love to have more of the community step up to contribute. This is how you create change – it only takes one voice to spark a hundred, and then a thousand and then a million.

Will you be that voice for Cure HHT?

Get involved and stay empowered. Contact [email protected] to become a Cure HHT blogger.

RECAP: 12th HHT International Scientific Conference

For the first time at an HHT Conference, voices were heard from six continents, motivating interest for those new to the field, and encouraging young researchers and clinicians to continue to build a career surrounding HHT. The attendance of young scientists was at an all-time high and the conference was buzzing with the excitement of knowledge and opportunity – a buzz that could literally be heard during breaks and mealtimes when researchers and clinicians stood together plotting the destruction of HHT.

 

 

195 HHT scientists, many new to the community, traveled from far and wide to Dubrovnik, Croatia – the “Pearl of the Adriatic” – for the 12th HHT International Scientific Conference. A strategic location choice; if the exciting new breakthroughs in HHT research wasn’t enough to lure scientists to Dubrovnik, then the vast beauty of mountains and sea most certainly would be. While enticing, this great beauty was not distracting, as scientific discussion of mechanisms, diagnosis, and treatment of the disease raged on, fueled by espresso and 6am dips in the Adriatic.

 

It was truly amazing to see the array of information presented at this meeting in the form of 8 invited speakers, 58 oral presentations, and 117 poster presentations, that all function to develop a greater global understanding of HHT. As always, this event continued to foster the opportunity for scientific collaboration, welcome young scholars to the community, and rekindle old friendships. Enjoy these photos from the conference.

Oral Presentation Abstracts, Poster Presentation Abstracts and an Executive Summary of the talks and workshops will be published in the October issue of Angiogenesis. Cure HHT will also host a webinar this fall to review the highlights of the conference, with hopes that the knowledge gained from this meeting will spread and reach all corners of the HHT community. In the meantime, check out the Basic Science Summary Presentation presented by Dr. Carmelo Bernabeu and the Clinical Science Summary Presentation presented by Dr. Urban Geisthoff.

 

 

Cure HHT was honored to provide prizes for the best young scholar presentations. Congratulations to our winners!

HHT Young Scholar Travel Awardees

Clinical Oral Presentations

  1. Ali Tayebi-Meybodi, University of California San Francisco, USA
  2. Daniel DePietro, University of Pennsylvania, USA

Basic Science Oral Presentations

  1. Elisa Rossi, Université Paris Descartes, France
  2. Whitney Wooderchak-Donahue, University of Utah / ARUP Laboratory, USA

Clinical Poster Presentations

Anna Hosman, Netherlands

  1. Anthony Cannavicci, University of Toronto / St. Michael's Hospital, Canada
  2. Anna Hosman, St. Antonius Hospital, Netherlands

Basic Science Poster Presentations

  1. Sara Plumitallo, University of Pavia, Italy
  2. Melissa Hector-Greene, Duke University, USA

 

 

Young Investigator Travel Award Recipients

Cure HHT is excited to announce that we were able to grant nineteen (19) Travel Awards for six (6) abstract oral presenters and thirteen (13) abstract poster presenters to attend the 12th HHT International Scientific Conference due to the generosity of one donor family and three corporate sponsors. Award recipients were selected based upon their abstract score; each awardee will receive $750.00 (US) upon arrival at the conference to apply toward their travel and hotel costs.

Clint Allred, MD
Anthony Cannavicci, BSc
Angela Crist, BS
Agnes Desroches-Castan, PhD
Freya Droege, MD
Melissa Hector-Greene, PhD
Brandon Ishaque, MD
Kristen Lee, MD
Michael Lumsden, MBChb student
Claudia Ollauri-Ibanez, MS
Sara Plumitallo, PhD
Thomas Pollenus, PhD student
Ekaterina Pylaeva
Batshalan Santhirapala, MRCP, MBBS, Bsc
Ali Tayebi Meybodi, MD
Hongyu Tian, PhD
Anna Vickers, MBchB, BMedSci
Whitney Wooderchak-Donahue, PhD

 

Thank You!

We'd like to give an enthusiastic thank you to everyone who contributed to this conference both scientifically and financially. Your dedication to this community had a direct impact on Cure HHT's ability to provide attendees with a rich and fulfilling experience. Your contributions are deeply appreciated by all!

  • Conference Program Executive Committee and Members
  • Invited Speakers
  • Judges and Session Chairs
  • Patients and Volunteers
  • Sponsors and Exhibitors
  • Donors who support Cure HHT and all of our research and education activities

 

Conference Program Exec. Committee

Conference Program Committee

Invited Speakers

HHT Patients

Conference Sponsors & Exhibitors

 

 

HHT Global Awareness Day

Today is June 23, 2017 and it’s HHT Global Awareness Day! As a person who has HHT disease and the author of a new book called Living with HHT, I’m excited to be part of this special day devoted to HHT awareness—and I hope my book will contribute to HHT awareness every day.  If you’re like most people, you’re probably asking, what in the world is HHT? That’s because most people, including most doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it! Which is precisely why awareness is critical to identifying and treating people who have this uncommon, but not-so-rare disease.

So what is it? HHT (Hereditary Hemorrhagic Telangiectasia) is a genetic blood vessel disorder, affecting approximately 1 in 5000 people, or 1.4 million people worldwide. HHT occurs in all ethnic and racial groups, and affects both men and women. If someone has HHT, each of their children has a 50% chance of inheriting the disease, which is caused by a mutation in one of several genes involved in blood vessel development. HHT results in some malformed blood vessels in which there is a direct connection between an artery and a vein, and normal capillaries (the smallest blood vessels) are missing. These abnormal blood vessels (called telangiectasias or arteriovenous malformations (AVMs)) can occur in the nose, gastrointestinal tract (gut), on the skin, or in the lungs, brain, or liver.

Nosebleeds are the most common and visible symptom of HHT, affecting about 95% of people with the disorder. Bleeding from the nose or from the gut can cause iron deficiency and anemia, sometimes requiring blood transfusions. AVMs in the liver rarely cause problems, but in some people, result in liver or heart failure. AVMs in the lungs and brain are invisible and often cause no symptoms, but can lead to sudden, devastating medical events, including brain or lung hemorrhage (bleeding), stroke and brain abscess. People who don’t know they have HHT or have not been screened for AVMs are vulnerable to these tragic events. Yet with proper diagnosis and treatment, almost all of these medical events can be prevented. HHT awareness can prevent serious disability and even save peoples’ lives.

How I become AWARE of HHT: Although I've had daily nosebleeds for most of my life, I wasn’t diagnosed with HHT until my mid-30s, after becoming severely anemic from chronic blood loss. My doctor suspected HHT but knew little about it. But I called the HHT Foundation (now Cure HHT) and they referred me to the Yale HHT Center of Excellence (there are now 25 of these HHT specialty care centers in North America and more around the world) where my diagnosis was confirmed and I was treated for my lung AVM.  I was fortunate to get my diagnosis and get screened for AVMs (I had one in my lungs that needed treatment) before having any disabling medical events. Treatment for my lung AVM reduced my chance of a stroke, and iron pills improved my anemia and restored my energy. My mother, who was completely without symptoms at the time of my diagnosis, was screened for HHT because she had a few nosebleeds as a young adult, and the finding of small AVMs in her lungs confirmed her diagnosis. My children were also screened and one had laser treatment for nosebleeds. There is now a genetic test for HHT, making diagnosis much easier.

In 2002, when I attended my first HHT Foundation Patient and Family conference, I met other patients who were not as fortunate as I was; some had strokes or brain abscesses before they were diagnosed with HHT. After learning that many people with HHT around the world were suffering preventable medical complications due to lack of proper diagnosis, I was prompted to become a volunteer with the HHT Foundation. Over the past 15 years, I’ve participated in walks, runs, and other local fundraising and awareness events, co-led a regional support and education group for HHT patients, and been a legislative advocate during Capitol Hill Days. Currently, I’m a volunteer member of the Cure HHT Board of Directors.

Why I wrote a book about HHT: In my professional life as a rehabilitation psychologist, I’ve specialized in helping people live better lives with chronic illness and disability. I’ve co-authored several Johns Hopkins Press Health Books about the medical, emotional and social aspects of various disabilities.  I saw a unique opportunity to combine my professional expertise and my personal experience with HHT to help other patients. Several years ago, I began presenting lectures and small group discussions at HHT Patient and Family Conferences on the emotional and family impact of HHT. I also wrote some HHT fact sheets and created a webinar on managing the psychosocial aspects of HHT.

After years of interacting with people who have HHT,  I’ve learned that many patients—even after going to HHT conferences or specialized treatment centers—don’t fully understand what HHT is all about or how to take care of themselves and their families.  Families have a difficult time talking about HHT and understanding that if one person is diagnosed with HHT, multiple family members may be at risk. There’s a lot of denial and resistance to getting screened and treated, even in families who’ve already had tragic medical events. What’s more, the emotional effects of HHT, including sadness, anxiety, grief, stress and relationship problems have an impact on quality of life for most people with HHT, but there’s little professional guidance on how to manage them.

So I decided to write a book about HHT explaining the complex medical aspects of the disease in every day, non-medical language and addressing the emotional and family issues associated with HHT. The book is for people who have HHT (or think they might have it), for their families, and for health care providers who want to learn about HHT diagnosis, treatment and research.

I hope that Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, will raise your awareness about HHT. Perhaps it will help you identify a friend or coworker who has HHT. If you’ve been diagnosed with HHT, I hope the book will teach you everything you need to know to manage and cope with your disease, get proper treatment, care for your family and live the healthiest life possible.

Happy HHT Global Awareness Day!

For more information on HHT, visit www.curehht.org

 

Sara Palmer, PhD, is a psychologist and an assistant professor in the Department of Physical Medicine and Rehabilitation at Johns Hopkins University School of Medicine. She is the coauthor of Spinal Cord Injury: A Guide for LivingWhen Your Spouse Has a Stroke: Caring for Your Partner, Yourself, and Your Relationship; and Just One of the Kids: Raising a Resilient Family When One of Your Children Has a Physical Disability. Her latest book, Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, comes out this December.

HHT Research Update

5 Cure HHT Grants Fund Research Breakthroughs

Research is the answer to curing HHT, and it is Cure HHT’s highest priority. Our Young Researchers program attracts the best and brightest to HHT research early in their careers, resulting in continued dedication to the cause. Preventing this disease in the next generation means securing breakthroughs now.

Cure HHT was able to award $30,000 grants to the following young scholars with your support. Here is what they have been up to over the last year!

 

Hongyu Tian, PhD with Duke University

Goal: To determine endoglin's role in regulating the biology of vascular smooth muscled cells, the cells responsible for stabilization of blood vessels, during developmental angiogenesis and its relation to HHT.

Update: Using CRISPR technology, the study found important new information about the weakening of blood vessels during development.

Next Steps: The study will expand into mice models and the same steps will then be repeated using HHT cells.

 

Wan Zhu, PhD with the University of California, San Francisco

Goal: To treat brain AVMs in HHT patients through gene therapy using a noninvasive strategy injecting a viral vector into the localized site to bind VEGF and inhibit VEGF pathogenic effects, and to extend this treatment for AVMs in other organs.

Update: The findings of this study have been submitted for publication in the Journal of Stroke. Once the findings are publically presented, more details will be made available.

Next Steps: Testing will continue in mice models to develop a groundbreaking treatment.

 

 

Chadwick Davis, PhD with University of Utah and Recursion Pharmaceuticals

Goal: To discover a known drug to be repurposed to successfully treat HHT by characterizing ENG, ACVRL1 and SMAD4 deficient cell lines using RNAi and identifying known drugs that fully or partially ameliorate the HHT phenoprint.

Update: After analyzing 700 quantified features, a screenable phenotype associated with SMAD4 was identified.

Next Steps: Recursion will perform a drug screen of their entire compound library to search for additional targets in ENG and ACVRL1.

 

Simon Tual-Chalot, PhD with Newcastle University

Goal: To investigate how endothelial endoglin maintains adult vasculature to protect against high output heart failure in mice models as it is associated with HHT.

Update: The study provided new, important discoveries about how mechanism procedures affect heart failure in HHT.

Next Steps: Understanding the relationship between endoglin function and VEGF signaling will be a major focus moving forward.

 

Whitney Wooderchak-Donahue, PhD with University of Utah and ARUP Laboratories

Goal: To identify additional genetic modifiers in HHT to determine if the variability of HHT is caused by mutations in additional genes or genetic modifiers critical to vascular development.

Update: More than 160 samples have been collected from two families with ACVRL1 mutation spanning eight generations, including relatives as distant as 13th degree. The access to distant relatives’ RNA facilitates identification of genetic modifiers that may influence development of AVMs in certain family members.

Next Steps: Select patients will undergo transcriptome sequencing, and data will be compared against controls to identify genetic modifiers of AVMs in HHT. This data will be used to guide subsequent experiments in which RNA will be evaluated and analyzed to identify new genes and genetic modifiers.

*Please note a more detailed report will be made available once each researcher presents or publishes their findings. The good news is four of them will be presenting in June at the HHT International Scientific Conference!*

Take Action: Protect Your Insurance

Take Steps to Block the American Health Care Act in the Senate!

The American Health Care Act (HR 1628) was passed in the House on May 4th, and will now be moving to the Senate for final consideration. This bill would eliminate insurance protections for those with pre-existing conditions - including genetic diseases like HHT.

Cure HHT is banning together with fellow advocacy groups to make sure this bill is voted NO in the Senate.

We need you to join the fight and tell your representatives to vote NO on the AHCA!

The need for action has never been more urgent!

Take Action - Contact Your Representatives

Call, email or write your representatives using this template letter as a guide.


How The AHCA Will Affect You

  • Individual states would be allowed to define “Essential Health Benefits,” meaning many of the basic services covered by the ACA -- such as prescription drugs, maternity care, mental health, emergency services, hospitalization – may no longer be covered.
  • Because annual and lifetime limits apply only to essential health benefits, insurers could put a cap on how much care one receives, but not on how much people owe. Treatment costs for major diseases are incredibly expensive and could easily bankrupt those in need.
  • Because treatments and medications for the HHT community can be very expensive, the elimination of essential health benefits essentially renders meaningless the ACA’s protections against insurance discrimination for those with “pre-existing medical conditions.”
  • Even if you get your health insurance through an employer, the new legislation could dramatically increase your costs while also reducing benefits.

Hetts Receives Young Clinician Award

 

Dr. Steven Hetts

Co-Director of University of California at San Francisco HHT Center

Associate Professor in Residence of Radiology and Biomedical Engineering

"The care I provide for patients with HHT is inspiring to me and a highlight of my career. An award associated with a true pioneer in the field of HHT is humbling and deeply meaningful to me."

Cure HHT is honored to present the Robert I White Jr. Young Clinician Award to Dr. Steve Hetts, a driven, intelligent asset to the HHT medical team. Not only was he instrumental in starting the HHT Center of Excellence at UCSF, he has continued to educate the HHT community as a whole at family conferences as well as the medical community at HHT-related seminars.

When he's not in the doctor's office, he can be found in the lab, developing novel image-guided endovascular devices and techniques for the treatment of stroke, tumors, vascular malformations  and other conditions accessible through the blood vessels or skin.

He has been the principal investigator on an NIH-sponsored project to develop remote-controlled endovascular catheters for use in interventional MRI. This could revolutionize outside stroke treatment, allowing doctors to visualize living versus dead brain tissue in real-time during their surgeries!

"He lit the spark and aided by his creativity, perseverance and serious academic interest in vascular malformations, he helped focus a large quorum of passionate individuals at UCSF who want to make HHT a disease of the past. And, he made it look easy."

- Dr. Miles Conrad, Co-Director UCSF

"Dr. Hetts brings a dedicated passion to his treatment of HHT patients and participation in the Cure HHT mission. He is always invigorating peers and mentees in various projects, championing ideas and following through. We are lucky to have him on our team!"

- Marianne Clancy, Executive Director Cure HHT